Variant report

Variant	rs55818299
Chromosome Location	chr7:104577821-104577822
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104575620..104578348-chr7:104578696..104581663,3	MCF-7	breast:
2	chr7:104577447..104579593-chr7:104590153..104592409,2	K562	blood:
3	chr7:104570597..104573173-chr7:104577411..104579738,2	K562	blood:
4	chr7:104575632..104577873-chr7:104582930..104585448,3	K562	blood:
5	chr7:104571186..104579198-chr7:104651179..104656823,10	K562	blood:
6	chr7:104572713..104579198-chr7:104651179..104657046,8	K562	blood:

Variant related genes	Relation type
ENSG00000239569	Chromatin interaction
ENSG00000228393	Chromatin interaction
ENSG00000237513	Chromatin interaction
ENSG00000005483	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10215748	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10487146	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11972126	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12333819	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4730061	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57657113	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831086	chr7:104422503-104596766	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1029283	chr7:104571741-104729168	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	132 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104569800-104580600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:104569800-104584000	Weak transcription	Esophagus	oesophagus
3	chr7:104572200-104580000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:104572200-104580800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:104572800-104579400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:104573400-104580200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:104573600-104579400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:104573600-104580200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:104573800-104579400	Weak transcription	Fetal Kidney	kidney
10	chr7:104573800-104583200	Weak transcription	Fetal Heart	heart
11	chr7:104574000-104579600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr7:104574000-104579800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:104574000-104580800	Weak transcription	Colonic Mucosa	Colon
14	chr7:104574200-104579200	Weak transcription	GM12878-XiMat	blood
15	chr7:104574200-104579400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:104574400-104582000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:104575000-104579400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:104575200-104579400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr7:104575200-104581600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr7:104575200-104581800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr7:104575400-104582000	Weak transcription	Stomach Mucosa	stomach
22	chr7:104577000-104579800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:104577600-104579800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:104577600-104580600	Weak transcription	Spleen	Spleen
25	chr7:104577600-104580800	Weak transcription	Primary B cells from peripheral blood	blood
26	chr7:104577800-104581200	Weak transcription	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links